Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ramona Salvarinova-Zivkovic"'
Autor:
Ramona Salvarinova-Zivkovic, Gabriella Horvath, J. Micallef, C. van Karnebeek, Sylvia Stockler-Ipsiroglu
Publikováno v:
Neuropediatrics. 51(3)
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear
Autor:
Eva Yap-Todos, Hilary Vallance, Alette Giezen, Gabriella Horvath, Sylvia Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, Barbara Cheng, Yolanda Lillquist, Carol Hartnett
Publikováno v:
Molecular Genetics and Metabolism. 108:255-258
We are reporting a retrospective review of blood phenylalanine (Phe) concentrations in 33 patients with classical phenylketonuria (PKU) born between 1991 and 2009 and continuously followed up in our clinic in 2009. As an indicator of blood Phe contro
Autor:
D. Dix, Yolanda Lillquist, Gabriella Horvath, Ramona Salvarinova-Zivkovic, Graham Sinclair, Carol Hartnett, Sylvia Stockler-Ipsiroglu
Publikováno v:
Molecular Genetics and Metabolism. 105:571-574
The metabolic control of phenylalanine levels is a challenge during illness. We present the metabolic management of a 6 year old boy with classical PKU who was diagnosed with stage III intraabdominal Burkit's lymphoma and underwent surgical resection
Autor:
Yolanda Lillquist, Keith Hyland, Mary B. Connolly, Gabriella Horvath, Tony Rupar, Paula J. Waters, Ramona Salvarinova-Zivkovic, Sylvia Stockler-Ipsiroglu, Nenad Blau
Publikováno v:
Molecular Genetics and Metabolism. 94:127-131
We describe a unique presentation of autosomal recessive (AR) GTP cyclohydrolase I (GTPCH) deficiency, with severe CNS involvement but without hyperphenylalaninemia. A male infant presented with progressive spasticity, dystonia and oculogyric episode
Autor:
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse, David Dimmock, Marni J. Falk, Jaya Ganesh, Carol Greene, Andrea L. Gropman, Richard Haas, Stephen G. Kahler, John Kamholz, Fran Kendall, Mark S. Korson, Andre Mattman, Margherita Milone, Dmitriy Niyazov, Phillip L. Pearl, Tyler Reimschisel, Ramona Salvarinova-Zivkovic, Katherine Sims, Mark Tarnopolsky, Chang-Yong Tsao, Johan van Hove, Laurence Walsh, Lynne A. Wolfe
Publikováno v:
Mitochondrion. 13(6)
Mitochondrial medicine is a young subspecialty. Clinicians have limited evidence-based guidelines on which to formulate clinical decisions regarding diagnosis, treatment and management for patients with mitochondrial disorders. Mitochondrial medicine
Autor:
Sandra Sirrs, Sylvia Stockler, Gabriella Horvath, Ramona Salvarinova-Zivkovic, Hilary Vallance, Paula J. Waters
Publikováno v:
BMC Musculoskeletal Disorders
Pompe disease (OMIM #232300) or glycogen storage disease type II is an autosomal recessive lysosomal storage disease caused by mutations in the glucosidase alpha acid (GAA) gene. The acid alpha-glucosidase enzyme is required for the degradation of ce
Autor:
Abigail Collins, Andre Mattman, Marni J. Falk, Mark A. Tarnopolsky, David Dimmock, Phillip L. Pearl, Ramona Salvarinova-Zivkovic, Johan L.K. Van Hove, Russell P. Saneto, Suzanne D. DeBrosse, Sumit Parikh, John Kamholz, Andrea L. Gropman, Dmitriy Niyazov, Jaya Ganesh, Richard Haas, Irina Anselm, Katherine B. Sims, Laurence E. Walsh, Chang Yong Tsao, Stephen G. Kahler, Gregory M. Enns, Mark S. Korson, Fran Kendall, Amy Goldstein, Tyler Reimschisel, Bruce H. Cohen, Carol L. Greene, Lynne A. Wolfe, Margherita Milone, Fernando Scaglia, Mary Kay Koenig
Publikováno v:
Mitochondrion. 14(1)
Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an inform
Autor:
Mattman, A., Jarvis-Selinger, S., Mezei, M. M., Ramona Salvarinova Zivkovic, Alfadhel, M., Lillquist, Y.
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0de3b87c5d7ebd00793bc653dc7e34e0
http://www.scopus.com/inward/record.url?eid=2-s2.0-79958187590&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-79958187590&partnerID=MN8TOARS
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